Stakeholder Engagement in the Communication of Genetic Information in Phelan-McDermid Syndrome

Background: Phelan-McDermid syndrome (PMS) is a rare condition caused by disruption of the long arm of chromosome 22, in the 22q13 region, usually including the SHANK3 gene. The loss of SHANK3, and other genes in 22q13, can have a variety of effects, most notably severe global developmental delay, autism, expressive language delay, hypotonia, heart defects, kidney defects, inability to sweat, and lymphedema. There is a lack of broad knowledge on the part of most physicians about the genetics and prognosis of PMS, along with a lack of sufficient education of families about the implication of genetic information, which means that improving engagement among families, geneticists, and genetic counselors in this process stands to create a large benefit for families with PMS.

Proposed Solution: The project team thus proposes to implement an expanded patient engagement process focusing on genetics within an existing conference agenda.

Objectives and Activities: The team will accomplish these goals by simulating a genetic counseling session at a larger scale, with input from many different communities that serve those with PMS: families and caregivers, geneticists and other clinicians, genetic counselors, and students and medical trainees focusing on genetics. The researchers will expand this approach to use a specific type of qualitative methods called user-centered design. This design process will involve multiple sessions with design professionals from the Indiana University Patient Engagement Core who will determine the specific needs of each stakeholder in this process, and build decision aids and educational materials that will help accomplish this process. It is the team’s hope that these lessons can then be expanded not only to the PMS community as a whole, but also to similar genetic conditions.

Outcomes and Outputs: This project will generate a large amount of patient-preference data that can subsequently be analyzed by qualitative researchers. Furthermore, at the end of the project, the team will have created a multimedia tool (such as brochures, web pages, or videos) that will help genetics professionals and families communicate with each other more effectively.

Patient and Stakeholder Engagement: All stakeholders will be actively engaged at each phase of the project. This includes input during the augmented genetic counseling sessions, user-centered design sessions, as well as input into the multimedia tools that are disseminated to the genetics community.

Project Collaborators: The Indiana University Patient Engagement Core (PEC) will help the team accomplish this project by providing design professionals who will run the user-centered design sessions and build the eventual multimedia tool. The PEC has extensive experience in user-centered design and patient engagement across a wide variety of conditions affecting children and young people.